ArticleBMC genomics2014
Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.
Article in BMC genomics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 1 of them a synthesis that pooled it.
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Who cites it
51 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.Journal of medical genetics · 2019Pooled it
- Chromosome microarray analysis in the investigation of children with congenital heart disease.BMC pediatrics · 2017Trial
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- Chromosomal Microarray Analysis in Critically Ill Neonates and Children: Diagnostic Yield and Clinical Utility.Life (Basel, Switzerland) · 2026Article
- Article
- Defects inFrontiers in genetics · 2026Article
- Impact of Sorbs2 dysfunction on cardiovascular diseases.Biochimica et biophysica acta. Molecular basis of disease · 2025Review
- Evaluating first-line genetic testing strategies for inpatients with congenital heart defects.Journal of genetic counseling · 2025Article
- Evaluation of Exome and Genome Sequencing for Critically Ill Pediatric Cardiac Patients.Research square · 2025Article
- Clinical features and genetic analysis of 471 cases of fetal congenital heart disease.BMC pregnancy and childbirth · 2024Article
- Sorbs2 Deficiency and Vascular BK Channelopathy in Diabetes.Circulation research · 2024Article
- Repurposing Normal Chromosomal Microarray Data to Harbor Genetic Insights into Congenital Heart Disease.Biology · 2023Article
- Risk factor analysis for adverse prognosis of the fetal ventricular septal defect (VSD).BMC pregnancy and childbirth · 2023Article
- Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects.Circulation. Genomic and precision medicine · 2022Article
- Copy number variant analysis for syndromic congenital heart disease in the Chinese population.Human genomics · 2022Article
- European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2022Article
- European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.Journal of arrhythmia · 2022Article
- Congenital heart defects and copy number variants associated with neurodevelopmental impairment.American journal of medical genetics. Part A · 2022Article
- Changes in ion channel expression and function associated with cardiac arrhythmogenic remodeling by Sorbs2.Biochimica et biophysica acta. Molecular basis of disease · 2021Article
- Detecting methylation quantitative trait loci using a methylation random field method.Briefings in bioinformatics · 2021Article
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15 authors.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital heart defects (CHD), as the most common congenital anomaly, have been reported to be frequently associated with pathogenic copy number variants (CNVs). Currently, patients with CHD are routinely offered chromosomal microarray (CMA) testing, but the diagnostic yield of CMA on CHD patients has not been extensively evaluated based on a large patient cohort. In this study, we retrospectively assessed the detected CNVs in a total of 514 CHD cases (a 422-case clinical cohort from Boston Children's Hospital (BCH) and a 92-case research cohort from Shanghai Children's Medical Center (SCMC)) and conducted a genotype-phenotype analysis. Furthermore, genes encompassed in pathogenic/likely pathogenic CNVs were prioritized by integrating several tools and public data sources for novel CHD candidate gene identification.
resultsBased on the BCH cohort, the overall diagnostic yield of CMA testing for CHD patients was 12.8(pathogenic CNVs)-18.5% (pathogenic and likely pathogenic CNVs). The diagnostic yield of CMA for syndromic CHD was 14.1-20.6% (excluding aneuploidy cases), whereas the diagnostic yield for isolated CHD was 4.3-9.3%. Four recurrent genomic loci (4q terminal region, 15q11.2, 16p12.2 and Yp11.2) were more significantly enriched in cases than in controls. These regions are considered as novel CHD loci. We further identified 20 genes as the most likely novel CHD candidate genes through gene prioritization analysis.
conclusionThe high clinical diagnostic yield of CMA in this study provides supportive evidence for CMA as the first-line genetic diagnostic tool for CHD patients. The CNVs detected in our study suggest a number of CHD candidate genes that warrant further investigation.
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